Images in Fetal Medicine
Fetal Diagn Ther 2010;28:123–128
DOI: 10.1159/000316929
Case Report and Review: Prenatal
Diagnosis of Congenital Megalourethra
Patama Promsonthi a Wit Viseshsindh b
a
Department of Obstetrics and Gynaecology, and b Department of Surgery, Faculty of Medicine,
Ramathibodi Hospital, Mahidol University, Bangkok , Thailand
Key Words
Megalourethra ⴢ Prenatal diagnosis ⴢ Prune belly syndrome
Abstract
Megalourethra is a rare congenital anomaly characterized by
dilatation of the penile urethra which causes functional ob-
struction of the lower urinary system. We present a case of
congenital megalourethra diagnosed prenatally. Transab-
dominal sonography revealed a male fetus with bilateral hy-
droureter, hydronephrosis, dilated bladder and normal am-
niotic fluid. The fetal penis was enlarged and the penile ure-
thra was dilated with ballooning at the distal end. The
urethral meatus was identified. The fetus was delivered at
term with a favorable outcome.
Copyright © 2010 S. Karger AG, Basel
Case Report
A 37-year-old woman, gravida 2, para 1, was referred to our
hospital for evaluation of fetal bilateral hydronephrosis at 34
weeks of gestation. Her family history was noncontributory. Her
first child was 9 years old and healthy. Physical examination re-
vealed a term-sized uterus with audible fetal heart sound. Bilat-
eral hydronephrosis was suspected since 30 weeks of gestation
and progressed before referral. The patient refused to perform
fetal karyotype or any invasive procedures. Transabdominal so-
nography at 34 weeks showed fetal bilateral hydronephrosis, bi-
lateral hydroureter, megacystis and dilated penile urethra (see on-
© 2010 S. Karger AG, Basel
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Received: May 25, 2010
Accepted after revision: June 13, 2010
Published online: July 31, 2010
line supplementary video 1, www.karger.com/doi/10.1159/316929).
The diagnosis of congenital megalourethra was made. The fetal
kidneys were markedly enlarged, with thin renal cortex, causing
severe abdominal distension. The renal echogenicity was normal.
The bladder wall was slightly thickened. The scrotal sac was emp-
ty. Clubfoot was also noted. The fetal penis was large and elon-
gated. The urethra was dilated along the fetal penis and balloon-
ing distally (fig. 1).
During the scan, we excluded hypospadia and phimosis by
demonstrating the penis in the dorsally curved position and iden-
tifying the urethral meatus at the distal end of the penis (fig. 2).
Since the amniotic fluid was normal and the patient declined any
invasive procedure to assess the fetal renal function, we decided
to follow up the pregnancy until term. The sonographic pictures
were unchanged during the follow-up scans.
At 38 weeks of gestation, a male neonate was delivered by ce-
sarean section. The birth weight was 4,630 g and the Apgar scores
were 7 and 9 at 1 and 5 min, respectively. Physical examination of
the neonate showed a male fetus with prune belly syndrome and
an enlarged, ventrally bulging penis compatible with scaphoid-
type megalourethra (fig. 3). The urethral opening was at the tip of
the penis. There was postvoid dripping after spontaneous urina-
tion. Urologic treatment of the patient was placement of a urinary
catheter because of incomplete urination. A No. 8 Foley catheter
could pass through the urethra without resistance. Postnatal ul-
trasound showed severe, bilateral hydronephrosis and hydroureter
with a dilated thick wall bladder. Cystoscopy with contrast media
injection revealed a dilated penile urethra, without a urethral
valve. The bladder wall was smooth and right vesicoureteric reflux
was documented (fig. 4). After placement of the catheter, the se-
rum creatinine level decreased spontaneously from 0.6 mg/dl on
the first day of life to 0.2 mg/dl. Vesicostomy was done to replace
the catheter before the baby was discharged. The urologist planned
to reconstruct the phallus and urethra between 8 and 12 months.
Patama Promsonthi, MD
Department of Obstetrics and Gynaecology, Faculty of Medicine
Ramathibodi Hospital, Mahidol University, 270 Rama VI Road
Bangkok 10400 (Thailand)
Tel. +66 2 201 2166, Fax +66 2 201 1416, E-Mail peepatama @ yahoo.com
1 2

a b
3

Fig. 1. Axial image showing a large penis

with dilated urethra which balloons dis-
tally. Note the empty scrotum.
Fig. 2. Sagittal image showing the dorsally
curved penis (arrows) and the urethral
meatus (arrowhead).
Fig. 3. Postnatal pictures. a Laxity of the
abdomen and enlarged penis. b Ventrally
bulging penis.
Fig. 4. Postnatal cystourethrogram. a Di-
lated penile urethra. b Right vesicoureter-
al reflux. a b 4

124 Fetal Diagn Ther 2010;28:123–128 Promsonthi /Viseshsindh

   
Table 1. Prenatal diagnosis of congenital megalourethra: review of the literature

Reference GA at diagnosis/ Karyo- Genitourinary abnormalities Other abnormalities Outcome

delivery week type

Current report 30/38 – scaphoid megalourethra, bilateral – BW 4,630 g

hydronephrosis and hydroureter, right Apgar scores 7, 9
VUR, cryptorchidism, distended discharge on day 7
abdominal wall (PBS)
Wax et al. 20/38 46,XY megacystis, bilateral hydronephrosis and – BW 2,650 g
2009 [10] hydroureter, distal urethral dilatation Apgar scores 8, 9
which resolved at 29 week, left VUR and scaphoid megalourethra
large postvoid residual volume on VCUG discharge on day 2
Gandhi et al. 22/– 46,XY anhydramnios, megalourethra hypoplastic left heart fetocide and labor
2008 [11] syndrome, pericardial effusion, induction
echogenic and dilated bowel,
talipes
20/– – oligohydramnios, right multicystic kidney, low set ear, hypoplastic left TOP at 21 weeks
left renal agenesis, megalourethra, heart syndrome, left hand
vesicorectal fistula polydactyly, single rudimentary
digit right hand, imperforated
anus, absent radius, absent
hemisacrum, single umbilical
artery
Torcia et al. 21/term 46,XY dilated urethra resolved at 24 weeks – term delivery, no urologic
2007 [9] abnormalities
Sepulveda et al. 20/– 46,XY oligohydramnios at 22 weeks, megacystis, – TOP at 22 weeks
2005 [12] bilateral hydronephrosis, echogenic
kidneys, fusiform megalourethra
21/28 46,XY oligohydramnios at 28 weeks, megacystis, – cesarean delivery
bilateral hydroureter, fusiform BW 1,282 g
megalourethra, multicystic, echogenic Apgar scores 8, 9
kidneys NND day 2
23/term – oligohydramnios at 28 weeks, megacystis, – BW 3,700 g
bilateral hydroureter and hydronephrosis, Apgar scores 1, 4
large dysplastic kidneys, scaphoid NND 15 min
megalourethra
24/31 46,XY oligohydramnios, megacystis, large, – BW 1,700 g
echogenic kidneys, left hydronephrosis, Apgar scores 5, 9
bilateral hydroureter, fusiform NND day 12
megalourethra
Misseri et al. 15/38 – anhydramnios and megacystis resolved at – cesarean delivery at term,
2004 [13] 19 week, megalourethra at 32 weeks scaphoid megalourethra
Nijagal et al. 20/36 – megacystis, bilateral hydronephrosis and – BW 2,110 g
2004 [8] hydroureter, megalourethra, normal renal function at
cryptorchidism 10 years of age
20/38 – megacystis, bilateral hydronephrosis and – BW 3,000 g
hydroureter, megalourethra, normal at 2 years of age
cryptorchidism
18/term – megacystis, bilateral hydronephrosis, – term delivery, doing well
megalourethra resolved 6 days after at 2 years of age
diagnosis
Olavarria et al. 20/NR 46,XY scaphoid megalourethra, megacystis, single umbilical artery NR
2004 [7] horseshoe kidney with echogenic renal
parenchyma, mild hydronephrosis
Ardiet et al. 20/36 – twin A-megalourethra, right renal agenesis, VACTERL, imperforated anus, BW 2,170 g
2003 [14] undescended testis, patent urachus single umbilical artery, type III Apgar scores 10, 10
esophageal atresia, vertebral multiple surgical
angulation, tethered spinal cord corrections, doing well at
2 years with urinary
incontinence

Prenatal Diagnosis of Megalourethra Fetal Diagn Ther 2010;28:123–128 125

Table 1 (continued)

Reference GA at diagnosis/ Karyo- Genitourinary abnormalities Other abnormalities Outcome

delivery week type

Krapp et al. 12/– 46,XY fusiform megalourethra, left renal agenesis, tracheoesophageal fistula, anal TOP at 16 weeks
2002 [15] right renal dysplasia atresia, postaxial brachydactyly,
spina bifida occulta, single
umbilical artery
Perrotin et al. 23/38 46,XY fusiform megalourethra, bilateral umbilical cord cyst BW 3,290 g
2000 [16] hydronephrosis and hydroureter, Apgar scores 8, 10
undescended testis, abdominal distension normal physical and
(PBS) mental development at 6
years, mildly impaired
renal function
21/37 46,XY scaphoid megalourethra, right – BW 3,120 g
ureterohydronephrosis with grade IV Apgar scores 10, 10
reflux, hypospadia normal development at
2 years, mildly impaired
renal function
Lam et al. 13/– 46,XY cystic dilation of the penis, megacystis – TOP at 13 weeks
2000 [17]
Savanelli et al. NR/NR – left polycystic kidney, right imperforated anus multiple surgical
1998 [18] hydroureteronephrosis with reflux, corrections, good cosmetic
incomplete urethral duplication, dilated appearance of penis and
posterior urethra, unretractable prepuce no VUR at 14 months
Smith et al. 34/37 – bilateral hydroureteronephrosis, short stature urologic reconstructive
1996 [19] undescended testis, dilated penile urethra with surgery
penile swelling, thickened bladder wall (PBS)
Wu et al. 18/- 46,XY reduced amount of amniotic fluid, bilateral malrotated colon, imperforated TOP at 22 weeks
1995 [20] hydronephrosis and hydroureter, left renal anus stenotic urethra
dysplasia, distended bladder, dilated
anterior urethra, posterior urethral valve,
undescended testis (PBS)
Mandell et al. 21/NR 46,XY megalourethra with PBS – live birth
1994 [21]
Dillon et al. 16/NR – fusiform megalourethra, rectovesical imperforated anus BW 3,770 g
1994 [22] fistula, left renal hypoplasia multiple surgical
procedures until 2 years,
pass urine satisfactorily
without urethral stricture
Sepulveda et al. 24/37 46,XY polyhydramnios at 24 weeks, decreased – BW 3,430 g
1993 [23] amniotic fluid at 36 weeks, distended bladder, Apgar scores 9, 9
bilateral hydronephrosis and hydroureter, discharged in good
scaphoid megalourethra, undescended testis, condition at 7 days
diminished abdominal wall musculature (PBS)
Simma et al. 16/39 46,XY anhydramnios at 16 weeks, left esophageal atresia, BW 2,260 g
1992 [24] hydronephrosis and hydroureter, right imperforated anus, malformed Apgar scores 5, 7, 8
renal cyst, rectovesical fistula, fusiform sacrum, VSD, splenic NND at 27 h
megalourethra duplication
Fisk et al. 18/– 46,XY dilated, thick wall bladder, bilateral clubfeet TOP at 23 weeks
1990 [25] hydronephrosis, fusiform megalourethra,
undescended testis,
floppy anterior abdominal wall (PBS)
Benacerraf et al. 21/36 – mild polyhydramnios, bilateral – elective delivery at
1989 [26] hydroureteronephrosis, distended, thick wall 36 weeks, left VUR on
bladder, distal penile megalourethra, PBS radiographic study

V UR = Vesicoureteral reflux; PBS = prune belly syndrome; VCUG= voiding cystourethrogram; TOP = termination of pregnancy; NND = neonatal
death; NR = not reported.

126 Fetal Diagn Ther 2010;28:123–128 Promsonthi /Viseshsindh

   
 Discussion
The term congenital megalourethra was first used in
1955 to describe an infant with renal insufficiency who
had an enlarged penis which dilated during voiding [1].
Since then, more cases were published and this condition
became better understood. However, there were limited
reports of this condition prenatally.
According to a review by Jones [2] in 2002, the prog-
nosis of megalourethra was worse in the fusiform type, in
which 100% of cases had associated anomalies and the
mortality rate was 66%, compared to the scaphoid type
which had 80% associated anomalies and a 13% mortal-
ity rate.
In this report, the appearance of ballooning of the ure-
thra, accompanied by a triad of prune belly syndrome
raised a number of possible diagnoses, such as phimosis or
hypospadia with distal urethral membrane [3]. Phimosis
rarely causes prune belly syndrome, and to our knowledge,
there has only been one case report that demonstrated se-
vere phimosis with complete occlusion of the prepuce
opening and caused prune belly syndrome [4]. In hypospa-
dia, the penis usually shortens and curves ventrally [5]. In
severe cases of hypospadia, the tulip sign, which is caused
by an extreme ventrally bent penis between the two scrotal
folds, can easily be recognized [6]. In our case, the dorsal-
ly curved penis with a visible urethral opening should ex-
clude hypospadia and phimosis. Oligohydramnios and
echogenic kidney reflect severe renal impairment and
poor outcome. In this case, the amniotic fluid volume was
normal and the pregnancy was continued until term.
We conducted a review of all reported cases of prena-
tally diagnosed congenital megalourethra. An electronic
Medline search of English literature using the term ‘pre-
natal diagnosis’ and ‘megalourethra’ was made. All refer-
ences of the retrieved articles were searched. The website
devoted to the field of prenatal diagnosis, ‘TheFetus.net’
(http://www.sonoworld.com/Fetus/Home.aspx), was also
searched.
There were 28 cases of prenatally diagnosed congeni-
tal megalourethra from 20 articles, including this current
report (table 1). All cases had sonographic features of gen-
itourinary abnormalities, mainly urinary tract obstruc-
tion or prune belly syndrome. Twelve cases (42.9%) had
abnormalities of other organ systems, in which imperfo-
rated anus/anal atresia was the most commonly associ-
ated abnormality (7/28). Single umbilical artery, vertebral
and limb abnormalities were found in 4/28 cases. Three
cases had cardiac abnormalities (2 hypoplastic left heart
syndrome, and 3 cases had esophageal atresia/tracheo-
esophageal fistula. Sixteen cases had karyotype anal-
yses, all were normal male. One article did not report
the postnatal outcome [7]. Two cases (7.14%) of prena-
tally diagnosed megalourethra resolved completely be-
fore birth without any residual finding at delivery [8, 9].
Sixteen cases had favorable outcomes at discharge.
There were 4 neonatal deaths and 7 pregnancy termina-
tions.
Congenital megalourethra is a rare disorder charac-
terized by deficiency of the corpus cavernosum and/or
spongiosum. There was no anatomic obstruction of the
urethra, but the urinary stasis during micturition at the
ballooning part of the urethra which lacks supporting tis-
sue may have caused functional obstruction [28]. The
prognosis of prenatally diagnosed megalourethra de-
pends on the associated anomalies and degree of renal
function impairment. Termination of pregnancy can be
offered if there are multiple associated anomalies or if se-
vere renal impairment is suspected. Echogenic kidneys
and early oligohydramnios are the important signs of
poor renal function. Postnatal management includes
complete investigation of associated anomalies, especial-
ly the genitourinary system. Urologic management dur-
ing the neonatal period is adequate drainage of urine.
Surgical correction of megalourethra was described orig-
inally by Nesbitt in 1955 [1].

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Promsonthi /Viseshsindh
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